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Article

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

19 Mar 2024

Abstract excerpt

OBJECTIVE: PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurological and neuropsychiatric challenges during childhood, including autism spectrum disorder (ASD). However, the frequency and nature of seizures and the utilization of allied...

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PMID: 38501559
DOI: 10.1002/acn3.52046

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